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Article

Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.

American journal of medical genetics. Part A - 1 Jun 2015

Kuroda Yukiko, Ohashi Ikuko, Naruto Takuya, Ida Kazumi, Enomoto Yumi, Saito Toshiyuki, Nagai Jun-Ichi, Wada Takahito, Kurosawa Kenji

Abstract excerpt

Next-generation sequencing has enabled the screening for a causative mutation in X-linked intellectual disability (XLID). We identified KIAA2022 mutations in two unrelated male patients by targeted sequencing. We selected 13 Japanese male patients with severe intellectual disability (ID), including four sibling patients and nine sporadic patients. Two of thirteen had a KIAA2022 mutation. Patient 1 was a...

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Identifiers

PMID: 25900396
DOI: 10.1002/ajmg.a.37002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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